Background We have investigated an orthognathic surgery population to determine how variation in masticatory muscle gene expression and genotype plays a key role in development of both jaw-deformation malocclusion and temporomandibular joint disorders (TMD). A gene of particular interest is ACTN3 since the common R577X polymorphism results in a-actinin-3 protein loss, reduced myofiber Zdisc str...

In this study, we aimed to investigate the influence of ACTN3 R577X gene polymorphism on muscle damage responses in athletes competing in an ultra-endurance race. Twenty moderate to well-trained ultra-runners who had entered in an official 37.1 km adventure race (22.1 km mountain biking, 10.9 km trekking, 4.1 km water trekking, 30 m rope course, and orienteering) volunteered for the study. Bloo...

Large-scale sequencing of human populations has revealed many regions of the genome that have undergone positive selection during recent human evolution [1]. For most such regions, the genes and the nucleotide variants under selection are challenging to identify, and one can only guess about the cellular and physiological mechanisms. In this issue of PLOS Genetics, Head et al. [2] shed light on...